Variant report

Variant	rs12285075
Chromosome Location	chr11:119755047-119755048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11217560	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11217562	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12286892	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2044545	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4938736	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4938737	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4938738	0.94[EUR][1000 genomes]
rs517918	0.96[EUR][1000 genomes]
rs525588	0.96[EUR][1000 genomes]
rs554422	0.95[EUR][1000 genomes]
rs765814	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051526	chr11:119750335-119775811	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12285075	GRIK4	cis	cerebellar cortex	BrainEAC

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119746000-119762400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:119747200-119758600	Weak transcription	Right Ventricle	heart
3	chr11:119747200-119768200	Weak transcription	Fetal Intestine Small	intestine
4	chr11:119747600-119762400	Weak transcription	Esophagus	oesophagus
5	chr11:119749600-119760000	Enhancers	Fetal Heart	heart
6	chr11:119751800-119756400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:119752000-119756400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:119753600-119758400	Weak transcription	Left Ventricle	heart
9	chr11:119754600-119755200	Enhancers	Brain Germinal Matrix	brain
10	chr11:119754800-119755200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr11:119754800-119755400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:119755000-119755200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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